IthaID: 245
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | Pathogenic / Likely Pathogenic |
|---|---|---|---|
| Common Name: | CD 123 (-A) >156aa | HGVS Name: | HBB:c.370delA |
| Hb Name: | Hb Makabe | Protein Info: | β 123 (-A); modified C-terminal sequence: (123)Pro-His-Gln-Cys-Arg-Leu-Pro-Ile-Arg-Lys- Trp-Trp-Leu-Val-Trp-Leu-Met-Pro-Trp-Pro- Thr-Ser-Ile-Thr-Lys-Leu-Ala-Phe-Leu-Leu- Ser-Asn-Phe-(156)Tyr-COOH |
Context nucleotide sequence:
GGCCCATCACTTTGGCAAAGAATTC [A/-] CCCCACCAGTGCAGGCTGCCTATCA (Strand: -)
Also known as:
Comments: Includion body β-thalassemia in the heterozygote. Unstable Hb variant.
We follow the HGVS sequence variant nomenclature and IUPAC standards.
Phenotype
| Hemoglobinopathy Group: | Thalassaemia and Structural Haemoglobinopathy |
|---|---|
| Hemoglobinopathy Subgroup: | β-thalassaemia, β-chain variant |
| Allele Phenotype: | Thalassaemia dominant Dominant |
| Stability: | Unstable |
| Oxygen Affinity: | N/A |
| Associated Phenotypes: |
Haemolytic anaemia [HP:0001878] Ineffective erythropoiesis [HP:0010972] |
Location
| Chromosome: | 11 |
|---|---|
| Locus: | NG_000007.3 |
| Locus Location: | 71944 |
| Size: | 1 bp |
| Located at: | β |
| Specific Location: | Exon 3 |
Other details
| Type of Mutation: | Point-Mutation(Deletion) |
|---|---|
| Effect on Gene/Protein Function: | Frameshift (Translation) |
| Ethnic Origin: | Japanese |
| Molecular mechanism: | N/A |
| Inheritance: | Dominant |
| DNA Sequence Determined: | Yes |
In silico pathogenicity prediction
Note:
The impact thresholds provided in this section are based on the analyses performed in Tamana et.al. For any given tool, the impact thresholds defined for the set of variants with the same effect on function as the variant examined, are preferred over those defined for the full dataset.
Sequence Viewer
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Frequencies
Publications / Origin
- Fucharoen S, Fucharoen G, Fukumaki Y, Nakayama Y, Hattori Y, Yamamoto K, Ohba Y, Three-base deletion in exon 3 of the beta-globin gene produced a novel variant (beta gunma) with a thalassemia-like phenotype., Blood, 76(9), 1894-6, 1990 PubMed
- Fucharoen S, Kobayashi Y, Fucharoen G, Ohba Y, Miyazono K, Fukumaki Y, Takaku F, A single nucleotide deletion in codon 123 of the beta-globin gene causes an inclusion body beta-thalassaemia trait: a novel elongated globin chain beta Makabe., British journal of haematology, 75(3), 393-9, 1990 PubMed
Created on 2010-06-16 16:13:15,
Last reviewed on 2023-08-09 10:36:57 (Show full history)
| A/A | Date | Curator(s) | Comments |
|---|---|---|---|
| 1 | 2010-06-16 16:13:15 | The IthaGenes Curation Team | Created |
| 2 | 2013-10-15 17:00:14 | The IthaGenes Curation Team | Reviewed. |
| 3 | 2023-08-09 10:36:57 | The IthaGenes Curation Team | Reviewed. Comment added |
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IthaGenes was last updated on 2024-11-20 13:24:07